How can a MTHFR gene mutation affect your health?

MTHFR gene mutations commonly underlie common health problems because the active form of folate is so important in how your biochemistry functions.

With a few simple changes and some professional advice you may be able to alleviate some symptoms laid out in this article. MTHFR is often overlooked. New research is showing how important it really is. You may be shocked to find out how many symptoms are linked to MTHFR gene mutations.

MTHFR gene mutations may lead to less methylation in your body. Less methylation means that a variety of complex biochemical changes can change over time, leading to health problems. Since everyone is unique, (for example: family history, lifestyle, diet etc..) symptoms arising from MTHFR mutations vary from person to person.

We can’t change the genes we have but we can change the way they act and this is the process of epigenetics. So let’s say you are born with an MTHFR gene mutation, but at the time that your mother was pregnant with you she was very stressed, working hard, not eating very well, then you could expect that the MTHFR gene most likely ‘expressed’ itself. This means that biochemical shifts started to happen due to less folate being produced and a higher demand for methyls (active folate) were needed by the body to cope with the stress. If you have a homozygous mutation then your enzyme really only works at 25% capacity and this makes it even harder for you to catch up.

Symptoms Linked To MTHFR Gene Mutations

Cardiovascular Conditions

MTHFR mutations may be adding fuel to the fire of cardiovascular problems. When active folate is low, we tend to see an elevation in homocysteine and this can mean you are more susceptible to having cardiovascular issues. The following is a list of cardiovascular conditions where MTHFR combined with an elevated homocysteine could be playing a role:

High blood pressure

Stroke

Heart attack

Deep vein thrombosis

Multiple Miscarriages and trouble falling pregnant

Pregnancy is one of the most demanding biological process on folate. You have no doubt heard that folate is the key nutrient for a successful pregnancy and this is because we need it for good quality DNA. This is the reason that there is a high prevalence of multiple miscarriage and failed IVF in my fertility population. So ensuring your active folate production is in good supply during preconception and pregnancy is critical for a healthy and successful pregnancy.

Oestrogen Dominance

Methylation plays a crucial role in the production/regulation of hormones within the human body. The key enzyme that gets rid of toxic estrogens needs active folate (methyls), so those in short supply can be more susceptible to having more toxic estrogen in their system. In some cases, problems with methylation are the underlying factor behind Oestrogen dominance, which can produce the following symptoms:

Fibrocystic ovaries and breasts

Tenderness and swelling of breasts

Mood swings

Irregular menstruation cycle

Food cravings

Thyroid dysfunction

Heavy periods

Painful Periods

Endometriosis (overgrowth of tissue lining the uterus, this is often painful)

Fibroids

Breast cancer

Prostate Cancer

Mental Health Problems

Mental health problems can be influenced by imbalances in hormones and neurotransmitters caused by a lack of methylation. Remember that SAMe is essential for our brain chemicals and your active folate helps you build SAMe levels. SAMe is the key ingredient we need to create all our brain chemicals like dopamine, serotonin, epinephrine, norepinephrine. I find that a huge percentage of my MTHFR patients have or do experience high levels of anxiety and depression at some time in their life. I think they are also much more susceptible to stress than the average person and so it’s a Catch 22 situation. You need the methyls (active folate) to be less stressed but because of the MTHFR gene mutation you haven’t got the capacity to make them. Look at the following symptoms and see if you have any of these:

Depression

Anxiety

Bipolar

ADD/ADHD

Social phobias

Lack of motivation

Lack of finishing products that you start

Food cravings

Depression especially in winter months

Feeling of sadness

Not wanting to mix with your friends or socialise

Brain fog (difficulty concentrating)

Autoimmune Problems

Autoimmunity is a big problem in society now. There are many contributing factors, however having a lack of methylation affects our immune system. If we can improve methylation then autoimmunity will improve. I often believe that it’s the lack of utilization of folate that is the trigger. Obviously we need to look at other genes that will work with MTHFR to affect immune function like HLA, Vitamin D, Vitamin A, Celiac genes etc.

Common Medications That Reduce Methylation

Common medications may be reducing your ability to methylate by lowering B12 or overall folate levels. If less B12 and/or folate is available to use in your body, symptoms may become worse. Medications that could be interfering with your B12 and folate levels include:

Medications to Watch out For:

Antacids

Cholestyramine

Nitrous oxide - your dentist will often use this. It's known as laughing gas.

Methotrexate

Niacin (at high doses) - because Niacin uses methyl groups in its metabolism

Theophylline

Cyclosporin

Metformin

Phenytoin

Bactrim - an antibiotic

Sulfasalazine

Triamterene

Trimethoprim

Ethanol

Oral Contraceptive Pill

Antimalarials

Conditions of Hypomethylation (Under Methylation)

MTHFR mutations affect methylation. Sometimes you might have low methylation and sometimes you might not be able to use the methyls that you do create. (I call this underutilization). Below you can find a list of some of the conditions that the research suggests is assocated with a lack of methylation. (organized categorically)

General Physiological Malfunctions

Allergic conditions

Ageing

Alzheimer’s Disease

Asthma

Autoimmune Disease

Cancer

Chronic degenerative diseases

Cardiovascular disease

Chronic fatigue

Diabetes

Poor detoxification

Fibromyalgia

Headaches

Joint pain, stiffness, and swelling

Muscle pain

Low neurotransmitter levels

Obesity

Increased pain

Thyroid dysfunction

Mental Health

ADD/ADHD

Addictive behaviors

Anorexia

Anxiety

Bipolar

Bulimia

Delusions

Depression

Autism

Insomnia

Obsessive compulsive disorder (OCD)

Oppositional defiant disorder (ODD)

Phobias

Psychosis

Schizophrenia

Pregnancy/Development

Spina bifida

Anencephaly

Encephalocele

Iniencephaly

Down syndrome

Infertility

Polycystic ovary syndrome

Recurrent pregnancy loss/miscarriage

Improving Your Health With An MTHFR Mutation

Improving your diet and including more leafy green vegetables is an important first step.

Doing everything you can to help stress until you can get the methylation balanced is key (yoga, Tai Chi, walking in nature, avoiding stressful events).

If you do not know if you have a MTHFR gene mutation yet, getting tested is the best way to move forward. Read more about getting tested for MTHFR gene mutations.

Most importantly I believe you should be empowered to make key decisions about your own health. So if you agree with me, please join my Patient Resource Center to meet like minded people who are already taking control and getting the information they need to make informed choices. Its also fun to have a community you can speak to and share information. Sign up here.